Estudo de casos de pacientes com variantes genômicas na região cromossômica 22q11.2

Abstract

The 22q11.2 region is one of the most complex in the human genome and is associated with various syndromes, such as 22q11.2 deletion syndrome and 22q11.2 microduplication syndrome. Deletion in this region is the most common and can lead to neuropsychiatric disorders. On the other hand, 22q11.2 microduplication syndrome is less common and presents different symptoms from the deletion syndrome, affecting craniofacial development and potentially being associated with immunological changes, cleft palate, and cardiac abnormalities. This study aimed to report cases that presented genomic variants involving the 22q11.2 region. The study was conducted at the Núcleo de Pesquisas Replicon da PUC Goiás. A total of 84 medical records of patients with clinical indications of intellectual disability, global developmental delay, and/or multiple congenital anomalies (MCA), who had undergone Chromosomal Microarray Analysis, were examined. Seven out of the 84 patients showed alterations in the 22q11.2 chromosomal region. The patients with chromosomal alterations in 22q11.2 exhibited clinical and phenotypic characteristics consistent with the scientific literature.